Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Konrad Jan Karczewski, Ph.D.

Concepts

This page shows the publications Konrad Karczewski has written about Genetic Variation.
Connection Strength

1.144
  1. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.278
  2. Systematic functional regulatory assessment of disease-associated variants. Proc Natl Acad Sci U S A. 2013 Jun 04; 110(23):9607-12.
    View in: PubMed
    Score: 0.171
  3. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 05 27; 11(1):2539.
    View in: PubMed
    Score: 0.070
  4. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523.
    View in: PubMed
    Score: 0.070
  5. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.070
  6. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Am J Hum Genet. 2019 01 03; 104(1):187-190.
    View in: PubMed
    Score: 0.063
  7. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158.
    View in: PubMed
    Score: 0.056
  8. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr; 49(4):504-510.
    View in: PubMed
    Score: 0.055
  9. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.054
  10. Efficient genotype compression and analysis of large genetic-variation data sets. Nat Methods. 2016 Jan; 13(1):63-5.
    View in: PubMed
    Score: 0.051
  11. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9.
    View in: PubMed
    Score: 0.049
  12. Extensive genetic variation in somatic human tissues. Proc Natl Acad Sci U S A. 2012 Oct 30; 109(44):18018-23.
    View in: PubMed
    Score: 0.041
  13. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012 Sep; 22(9):1790-7.
    View in: PubMed
    Score: 0.041
  14. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 2011 Sep; 7(9):e1002280.
    View in: PubMed
    Score: 0.038
  15. Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. Am J Hum Genet. 2018 05 03; 102(5):760-775.
    View in: PubMed
    Score: 0.015
  16. Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293.
    View in: PubMed
    Score: 0.014
  17. Regulatory variation within and between species. Annu Rev Genomics Hum Genet. 2011; 12:327-46.
    View in: PubMed
    Score: 0.009
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.